Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about GEMIN6: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
GEMIN6 encodes a component of the SMN complex essential for snRNP biogenesis, critical for motor neuron survival and linked to spinal muscular atrophy
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| Gene Symbol | GEMIN6 |
| Full Name | Gem-Associated Protein 6 |
| Chromosome | 2p16.3 |
| Function | is a component of the SMN (Survival of Motor Neurons) complex, which is essential for the biogenesis of small nuclear ribonucleoproteins (snRNPs) crucial for pre-mRNA splicing. |
| Primary Expression | motor neurons, and mutations in SMN1 (the primary SMA-causing gene) lead to spinal muscular atrophy (SMA) |
| Amino Acids | 244 aa |
| UniProt ID | [Q9Y5B2](https://www.uniprot.org/uniprotkb/Q9Y5B2) |
| Ensembl ID | ENSG00000179750 |
| OMIM | 609651 |
| GeneCards | GEMIN6 |
| Human Protein Atlas | GEMIN6 |
| N-terminal domain | mediates interaction with other Gemin proteins |
| Central region | contains motifs for protein-protein interactions |
| C-terminal domain | contributes to SMN complex stability |
| Associated Diseases | Alzheimer's disease, Parkinson's disease |
| Databases | GeneCardsNCBI GeneHPASTRING |
Knowledge base pages for this entity
graph TD
GEMIN6["GEMIN6"]
neurodegeneration["neurodegeneration"]
GEMIN6 -->|"implicated_in"| neurodegeneration
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Hypotheses where this entity is a therapeutic target
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Scientific analyses that reference this entity
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Experimental studies targeting or related to this entity
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Scientific publications cited in analyses involving this entity
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Multi-agent debates referencing this entity
No debates reference this entity